Zobrazeno 1 - 10 of 14 pro vyhledávání: '"John E. Richter"'
1
Akademický článek
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
Autor: John E. Richter Jr., Charitha Vadlamudi, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldeep S. Atwal, Thomas R. Caulfield
Publikováno v: Case Reports in Genetics, Vol 2020 (2020)
Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and
Externí odkaz: https://doaj.org/article/e2976b88cf5e4e80a013a27f5f823bb8
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2
Akademický článek
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Autor: Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal
Publikováno v: Case Reports in Genetics, Vol 2018 (2018)
Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be seve
Externí odkaz: https://doaj.org/article/59b20f95a2a04b9db3912f4c3fbe6889
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3
Akademický článek
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations
Autor: John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas Wierenga, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Publikováno v: Medicina, Vol 55, Iss 5, p 137 (2019)
Background and objectives: Loeys–Dietz syndrome 3, also known as aneurysms-–osteoarthritis syndrome, is an autosomal dominant genetic connective tissue disease caused by pathogenic variants in SMAD3, a transcription factor involved in TGF-β sign
Externí odkaz: https://doaj.org/article/282df7fb72974ee49600044395f9d843
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4
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect
Autor: Stephanie L. Hines, Houssam Farres, Pavalan Selvam, Paldeep S. Atwal, Thomas R. Caulfield, Herjot Atwal, John E. Richter
Publikováno v: Cancer Genetics. :107-110
The titular member of the MAX network of proteins, MYC-associated factor X (MAX), serves an important regulatory function in transcription of E-box genes associated with cell proliferation, differentiation, and apoptosis. Wild type MAX dimerizes with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d74a6c1a7563d44a2952596c559f3d0a
https://doi.org/10.1016/j.cancergen.2021.01.004
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6
Characterization of a pathogenic variant in the ABCD1 gene through protein molecular modeling
Autor: Stephanie L. Hines, Thomas R. Caulfield, Charitha Vadlamudi, Paldeep S. Atwal, Ayesha Samreen, Ahmed N. Mohammad, Daniel F. Broderick, Sarah Macklin, John E. Richter, Jay A. VanGerpen, Haytham Helmi
Publikováno v: Case Reports in Genetics, Vol 2020 (2020)
Case Reports in Genetics
Background The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db67940459a6c4cef849424c81d525b0
https://eprints.gla.ac.uk/220338/1/220338.pdf
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7
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
Autor: Herjot Atwal, Paldeep S. Atwal, Patrick R. Blackburn, Jeremy D. Burgess, Jay A. van Gerpen, Jennifer Gass, Natasha N. DeMeo, John E. Richter
Publikováno v: Clinical Case Reports
Key Clinical Message This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the CASR gene and a variant of uncertain sign
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c924399244435618590ae708b10a104
https://doi.org/10.1002/ccr3.1265
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8
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations
Autor: Paldeep S. Atwal, John E. Richter, Stephanie L. Hines, Ayesha Samreen, Thomas R. Caulfield, Ahmed N. Mohammad, Klaas J. Wierenga, Haytham Helmi, Charitha Vadlamudi
Publikováno v: Medicina, Vol 55, Iss 5, p 137 (2019)
Medicina; Volume 55; Issue 5; Pages: 137
Medicina
Volume 55
Issue 5
Background and objectives: Loeys&ndash
Dietz syndrome 3, also known as aneurysms-&ndash
osteoarthritis syndrome, is an autosomal dominant genetic connective tissue disease caused by pathogenic variants in SMAD3, a transcription factor invol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe5e976acc32ec6803d9bdcab6f02b7b
https://www.mdpi.com/1010-660X/55/5/137
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9
Expansion of the clinical spectrum associated with AARS2-related disorders
Autor: Hilary J. Vernon, Weiyi Mu, Jay A. VanGerpen, David S. Zee, Erik H. Middlebrooks, Siddharth Srivastava, Sonal Mahida, Sakku Bai Naidu, Paldeep S. Atwal, Andrea Poretti, Ankur Butala, John E. Richter
Publikováno v: American journal of medical genetics. Part A. 179(8)
Biallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl-tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult-onset progressive leukoencephalopathy. In this article, we present three
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795d0f13fddb16e3595877ebdd864553
https://pubmed.ncbi.nlm.nih.gov/31099476
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10
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family
Autor: Thomas R. Caulfield, John E. Richter, Emily E. Brown, Paldeep S. Atwal, Ahmed N. Mohammad, Daniel P. Judge
Publikováno v: Molecular Genetics & Genomic Medicine
Background: \ud Haploinsufficiency of TAB 2 is known to cause congenital heart defects and cardiomyopathy due to its important roles in cardiovascular tissue, both during development and through adult life. We report a sibling pair displaying adult
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26439bdb4dfd42e144bce2955b15edc
https://eprints.gla.ac.uk/216569/1/216569.pdf
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